Canonical Allele Identifier: CA388026332

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515273T>G (hg19) ; chr13:g.51941137T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941137T>G , CM000675.2:g.51941137T>G	GRCh38
NC_000013.10:g.52515273T>G , CM000675.1:g.52515273T>G	GRCh37
NC_000013.9:g.51413274T>G	NCBI36
NG_008806.1:g.75358A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1150A>C	ENSP00000489512.2:n.*1150A>C
ENST00000673864.2:c.*2244A>C	ENSP00000501045.2:n.*2244A>C
ENST00000674147.2:c.2879A>C	ENSP00000500964.2:p.Asp960Ala
ENST00000242839.10:c.3500A>C MANE Select	ENSP00000242839.5:p.Asp1167Ala
ENST00000344297.9:c.2879A>C	ENSP00000342559.5:p.Asp960Ala
ENST00000400366.6:c.3167A>C	ENSP00000383217.3:p.Asp1056Ala
ENST00000448424.7:c.3248A>C	ENSP00000416738.3:p.Asp1083Ala
ENST00000673772.1:c.3266A>C	ENSP00000501168.1:p.Asp1089Ala
ENST00000673867.1:n.3639A>C
ENST00000674126.1:n.3863A>C
ENST00000674147.1:c.2435A>C	ENSP00000500964.1:p.Asp812Ala
ENST00000242839.8:c.3500A>C	ENSP00000242839.4:p.Asp1167Ala
ENST00000344297.8:c.2879A>C	ENSP00000342559.5:p.Asp960Ala
ENST00000400366.5:c.3167A>C	ENSP00000383217.3:p.Asp1056Ala
ENST00000400370.8:c.2210A>C	ENSP00000383221.3:p.Asp737Ala
ENST00000418097.7:c.3305A>C	ENSP00000393343.2:p.Asp1102Ala
ENST00000448424.6:c.3266A>C	ENSP00000416738.2:p.Asp1089Ala
ENST00000634296.1:c.1278A>C
ENST00000634308.1:c.*601A>C	ENSP00000489234.1:n.*601A>C
ENST00000634620.1:n.4244A>C
ENST00000634810.1:n.2845A>C
ENST00000634844.1:c.3356A>C	ENSP00000489398.1:p.Asp1119Ala
NM_000053.3:c.3500A>C	NP_000044.2:p.Asp1167Ala
NM_001005918.2:c.2879A>C	NP_001005918.1:p.Asp960Ala
NM_001243182.1:c.3167A>C	NP_001230111.1:p.Asp1056Ala
XM_005266423.2:c.3404A>C	XP_005266480.1:p.Asp1135Ala
XM_005266424.3:c.3404A>C	XP_005266481.1:p.Asp1135Ala
XM_005266427.2:c.3266A>C	XP_005266484.1:p.Asp1089Ala
XM_005266428.1:c.3248A>C	XP_005266485.1:p.Asp1083Ala
XM_005266430.3:c.3500A>C	XP_005266487.1:p.Asp1167Ala
XM_005266431.2:c.3464A>C	XP_005266488.1:p.Asp1155Ala
XM_005266432.2:c.3014A>C	XP_005266489.1:p.Asp1005Ala
XM_006719837.2:c.3404A>C	XP_006719900.1:p.Asp1135Ala
XM_006719838.1:c.1316A>C	XP_006719901.1:p.Asp439Ala
XM_006719839.1:c.1133A>C	XP_006719902.1:p.Asp378Ala
XM_011535117.1:c.3404A>C	XP_011533419.1:p.Asp1135Ala
XM_011535118.1:c.3365A>C	XP_011533420.1:p.Asp1122Ala
XM_011535119.1:c.3317A>C	XP_011533421.1:p.Asp1106Ala
XM_011535120.1:c.3086A>C	XP_011533422.1:p.Asp1029Ala
XM_011535121.1:c.2987A>C	XP_011533423.1:p.Asp996Ala
XM_011535122.1:c.2168A>C	XP_011533424.1:p.Asp723Ala
XR_941601.1:n.3719A>C
XR_941602.1:n.3719A>C
XR_941603.1:n.3719A>C
XR_941604.1:n.3719A>C
NM_001330578.1:c.3266A>C	NP_001317507.1:p.Asp1089Ala
NM_001330579.1:c.3248A>C	NP_001317508.1:p.Asp1083Ala
XM_005266424.4:c.3404A>C	XP_005266481.1:p.Asp1135Ala
XM_005266430.4:c.3500A>C	XP_005266487.1:p.Asp1167Ala
XM_005266431.4:c.3464A>C	XP_005266488.1:p.Asp1155Ala
XM_006719837.3:c.3404A>C	XP_006719900.1:p.Asp1135Ala
XM_011535117.3:c.3404A>C	XP_011533419.1:p.Asp1135Ala
XM_017020627.1:c.3404A>C	XP_016876116.1:p.Asp1135Ala
NM_000053.4:c.3500A>C MANE Select	NP_000044.2:p.Asp1167Ala
NM_001005918.3:c.2879A>C	NP_001005918.1:p.Asp960Ala
NM_001330579.2:c.3248A>C	NP_001317508.1:p.Asp1083Ala
NM_001243182.2:c.3167A>C	NP_001230111.1:p.Asp1056Ala
NM_001330578.2:c.3266A>C	NP_001317507.1:p.Asp1089Ala